Chromosomal Sex

Undetermined

Median Read Length

10208bp

Total Reads

9,957,879

Chromosome Copy Summary

0 copies 1 copies 2 copies 3 copies 4 copies
2 4 11 14 20 22 X 17 Y 1 3 5 6 7 8 9 10 12 13 13 15 16 18 19 21 - -

Ideoplot

Red: Increased copy number detected

Blue: Decreased copy number detected

Yellow: QDNASeq no call

Black: 'acen', 'gvar', or 'stalk'. Read counts of < -2 converted to 2

Detailed CNV Results

QDNASeq Smoothed Read Counts

Bin size 15Mb, No call not displayed

chr start end genes read count call
chr1 2445000 2460000 Genes -1.785 -2
chr1 2460000 2475000 Genes -1022.0 -2
chr1 2475000 2490000 Genes -1022.0 -2
chr1 2490000 2505000 Genes -1022.0 -2
chr1 2505000 2520000 Genes -1022.0 -2
chr1 2520000 2535000 Genes -1022.0 -2
chr1 2535000 2550000 Genes -1022.0 -2
chr1 2550000 2565000 Genes -1022.0 -2
chr1 2565000 2580000 Genes -1022.0 -2
chr1 2580000 2595000 Genes -1022.0 -2
chr1 2595000 2610000 Genes -1022.0 -2
chr1 2610000 2625000 Genes -1022.0 -2
chr1 2625000 2640000 Genes -2.846 -2
chr1 2640000 2655000 Genes -4.566 -2
chr1 17160000 17175000 Genes -1022.0 -2
chr1 17175000 17190000 Genes -1022.0 -2
chr1 17190000 17205000 Genes -1022.0 -2
chr1 17205000 17220000 Genes -1022.0 -2
chr1 17220000 17235000 Genes -1022.0 -2
chr1 17235000 17250000 Genes -1022.0 -2
chr1 17250000 17265000 Genes -1022.0 -2
chr1 17265000 17280000 Genes -1022.0 -2
chr1 17280000 17295000 Genes -3.349 -2
chr1 17295000 17310000 Genes -2.667 -2
chr1 17310000 17325000 Genes -5.633 -2
chr1 17325000 17340000 Genes -1022.0 -2
chr1 17340000 17355000 Genes -1022.0 -2
chr1 17355000 17370000 Genes -1022.0 -2
chr1 17370000 17385000 Genes -1022.0 -2
chr1 17385000 17400000 Genes -1022.0 -2
chr1 17400000 17415000 Genes -1022.0 -2
chr1 17415000 17430000 Genes -1022.0 -2
chr1 17430000 17445000 Genes -4.051 -2
chr1 23235000 23250000 Genes -3.642 -2
chr1 23250000 23265000 Genes -1022.0 -2
chr1 23265000 23280000 Genes -1022.0 -2
chr1 23280000 23295000 Genes -1022.0 -2
chr1 23295000 23310000 Genes -1022.0 -2
chr1 23310000 23325000 Genes -1022.0 -2
chr1 23325000 23340000 Genes -1022.0 -2
chr1 23340000 23355000 Genes -1022.0 -2
chr1 23355000 23370000 Genes -1022.0 -2
chr1 23370000 23385000 Genes -1022.0 -2
chr1 23385000 23400000 Genes -5.639 -2
chr1 23400000 23415000 Genes -1022.0 -2
chr1 23415000 23430000 Genes -1022.0 -2
chr1 23430000 23445000 Genes -1022.0 -2
chr1 23445000 23460000 Genes -1022.0 -2
chr1 23460000 23475000 Genes -1022.0 -2
chr1 23475000 23490000 Genes -1022.0 -2
chr1 23490000 23505000 Genes -1022.0 -2
chr1 23505000 23520000 Genes -1022.0 -2
chr1 23520000 23535000 Genes -1022.0 -2
chr1 23535000 23550000 Genes -1022.0 -2
chr1 23550000 23565000 Genes -1022.0 -2
chr1 26520000 26535000 Genes -1022.0 -2
chr1 26535000 26550000 Genes -1022.0 -2
chr1 26550000 26565000 Genes -1022.0 -2
chr1 26565000 26580000 Genes -1022.0 -2
chr1 26580000 26595000 Genes -1022.0 -2
chr1 26595000 26610000 Genes -1022.0 -2
chr1 26610000 26625000 Genes -1022.0 -2
chr1 26625000 26640000 Genes -5.662 -2
chr1 26640000 26655000 Genes -1022.0 -2
chr1 26655000 26670000 Genes -2.482 -2
chr1 28215000 28230000 Genes -1022.0 -2
chr1 28230000 28245000 Genes -1022.0 -2
chr1 28245000 28260000 Genes -1022.0 -2
chr1 28260000 28275000 Genes -1022.0 -2
chr1 28275000 28290000 Genes -1022.0 -2
chr1 28290000 28305000 Genes -1022.0 -2
chr1 28305000 28320000 Genes -1022.0 -2
chr1 28320000 28335000 Genes -1022.0 -2
chr1 28335000 28350000 Genes -2.332 -2
chr1 30345000 30360000 Genes -1.979 -2
chr1 30360000 30375000 Genes -3.685 -2
chr1 30375000 30390000 Genes -0.815 -2
chr1 30390000 30405000 Genes -1.631 -2
chr1 30405000 30420000 Genes -5.684 -2
chr1 41250000 41265000 Genes -1022.0 -2
chr1 41265000 41280000 Genes -1022.0 -2
chr1 41280000 41295000 Genes -1022.0 -2
chr1 41295000 41310000 Genes -1022.0 -2
chr1 41310000 41325000 Genes -1022.0 -2
chr1 41325000 41340000 Genes -1022.0 -2
chr1 41340000 41355000 Genes -1022.0 -2
chr1 41355000 41370000 Genes -1022.0 -2
chr1 41370000 41385000 Genes -1022.0 -2
chr1 41385000 41400000 Genes -1022.0 -2
chr1 41400000 41415000 Genes -1022.0 -2
chr1 72285000 72300000 Genes -2.372 -2
chr1 72345000 72360000 Genes -1022.0 -2
chr1 72360000 72375000 Genes -1022.0 -2
chr1 72375000 72390000 Genes -1022.0 -2
chr1 72390000 72405000 Genes -4.683 -2
chr1 103920000 103935000 Genes -5.697 -2
chr1 103935000 103950000 Genes -1022.0 -2
chr1 103950000 103965000 Genes -1022.0 -2
chr1 103965000 103980000 Genes -1022.0 -2
chr1 103980000 103995000 Genes -1022.0 -2
chr1 103995000 104010000 Genes -1022.0 -2
chr1 104010000 104025000 Genes -5.695 -2
chr1 107985000 108000000 Genes -2.699 -2
chr1 108000000 108015000 Genes -1022.0 -2
chr1 108015000 108030000 Genes -1022.0 -2
chr1 108030000 108045000 Genes -1022.0 -2
chr1 108045000 108060000 Genes -1022.0 -2
chr1 108060000 108075000 Genes -1022.0 -2
chr1 108075000 108090000 Genes -1022.0 -2
chr1 108090000 108105000 Genes -1022.0 -2
chr1 108105000 108120000 Genes -5.7 -2
chr1 108120000 108135000 Genes -5.669 -2
chr1 108135000 108150000 Genes -1.887 -2
chr1 108150000 108165000 Genes -0.6 -2
chr1 108165000 108180000 Genes -1.521 -2
chr1 108180000 108195000 Genes -4.705 -2
chr1 108195000 108210000 Genes -5.668 -2
chr1 108315000 108330000 Genes -2.701 -2
chr1 108330000 108345000 Genes -0.946 -2
chr1 108345000 108360000 Genes 0.188 -2
chr1 108495000 108510000 Genes -2.696 -2
chr1 108510000 108525000 Genes -4.093 -2
chr1 112905000 112920000 Genes -2.373 -2
chr1 112920000 112935000 Genes -1022.0 -2
chr1 112935000 112950000 Genes -1022.0 -2
chr1 112950000 112965000 Genes -1022.0 -2
chr1 112965000 112980000 Genes -1022.0 -2
chr1 112980000 112995000 Genes -1022.0 -2
chr1 112995000 113010000 Genes -1022.0 -2
chr1 153705000 153720000 Genes -1022.0 -2
chr1 153720000 153735000 Genes -1022.0 -2
chr1 153735000 153750000 Genes -1022.0 -2
chr1 153750000 153765000 Genes -1022.0 -2
chr1 153765000 153780000 Genes -1022.0 -2
chr1 153780000 153795000 Genes -1022.0 -2
chr1 153795000 153810000 Genes -1022.0 -2
chr1 153810000 153825000 Genes -1022.0 -2
chr1 153825000 153840000 Genes -1022.0 -2
chr1 153840000 153855000 Genes -3.667 -2
chr1 155220000 155235000 Genes -1022.0 -2
chr1 155235000 155250000 Genes -1022.0 -2
chr1 155250000 155265000 Genes -1022.0 -2
chr1 155265000 155280000 Genes -1022.0 -2
chr1 155280000 155295000 Genes -3.628 -2
chr1 198375000 198390000 Genes -1022.0 -2
chr1 198390000 198405000 Genes -1022.0 -2
chr1 198405000 198420000 Genes -1022.0 -2
chr1 198420000 198435000 Genes -1022.0 -2
chr1 198435000 198450000 Genes -1022.0 -2
chr1 198450000 198465000 Genes -1022.0 -2
chr1 198465000 198480000 Genes -1022.0 -2
chr1 198480000 198495000 Genes -3.713 -2
chr1 198495000 198510000 Genes -1.301 -2
chr1 198510000 198525000 Genes -1022.0 -2
chr1 198525000 198540000 Genes -1022.0 -2
chr1 198540000 198555000 Genes -1022.0 -2
chr1 198555000 198570000 Genes -1022.0 -2
chr1 198570000 198585000 Genes -1022.0 -2
chr1 198585000 198600000 Genes -1022.0 -2
chr1 198600000 198615000 Genes -1022.0 -2
chr1 198615000 198630000 Genes -1022.0 -2
chr1 198630000 198645000 Genes -1022.0 -2
chr1 198645000 198660000 Genes -1022.0 -2
chr1 198660000 198675000 Genes -1022.0 -2
chr1 198675000 198690000 Genes -1022.0 -2
chr1 198690000 198705000 Genes -1022.0 -2
chr1 210225000 210240000 Genes -1022.0 -2
chr1 210240000 210255000 Genes -1022.0 -2
chr1 210255000 210270000 Genes -1022.0 -2
chr1 210270000 210285000 Genes -1022.0 -2
chr1 210285000 210300000 Genes -1022.0 -2
chr1 210300000 210315000 Genes -1022.0 -2
chr1 210315000 210330000 Genes -1022.0 -2
chr1 210330000 210345000 Genes -1022.0 -2
chr1 210345000 210360000 Genes -1022.0 -2
chr1 210360000 210375000 Genes -1022.0 -2
chr1 210375000 210390000 Genes -1022.0 -2
chr1 210390000 210405000 Genes -1022.0 -2
chr1 210405000 210420000 Genes -1022.0 -2
chr1 210420000 210435000 Genes -1022.0 -2
chr1 210435000 210450000 Genes -1022.0 -2
chr1 210450000 210465000 Genes -1022.0 -2
chr1 210465000 210480000 Genes -1022.0 -2
chr1 210480000 210495000 Genes -1022.0 -2
chr1 210495000 210510000 Genes -1022.0 -2
chr1 210510000 210525000 Genes -1022.0 -2
chr1 210525000 210540000 Genes -1022.0 -2
chr1 210540000 210555000 Genes -1022.0 -2
chr1 210555000 210570000 Genes -1022.0 -2
chr1 210570000 210585000 Genes -1022.0 -2
chr1 210585000 210600000 Genes -1022.0 -2
chr1 210600000 210615000 Genes -1022.0 -2
chr1 210615000 210630000 Genes -1022.0 -2
chr1 210630000 210645000 Genes -1022.0 -2
chr1 210645000 210660000 Genes -1022.0 -2
chr1 228405000 228420000 Genes -2.086 -2
chr1 228420000 228435000 Genes -1022.0 -2
chr1 228435000 228450000 Genes -1022.0 -2
chr1 228450000 228465000 Genes -1022.0 -2
chr1 228465000 228480000 Genes -1022.0 -2
chr1 228480000 228495000 Genes -1022.0 -2
chr1 228495000 228510000 Genes -1022.0 -2
chr1 228510000 228525000 Genes -1022.0 -2
chr1 228525000 228540000 Genes -1022.0 -2
chr1 228540000 228555000 Genes -1022.0 -2
chr1 228645000 228660000 Genes -1022.0 -2
chr1 228660000 228675000 Genes -1022.0 -2
chr1 228675000 228690000 Genes -1022.0 -2
chr1 228690000 228705000 Genes -1022.0 -2
chr1 228705000 228720000 Genes -1022.0 -2
chr1 228720000 228735000 Genes -5.697 -2
chr1 235365000 235380000 Genes -1022.0 -2
chr1 235395000 235410000 Genes -1.41 -2
chr1 235410000 235425000 Genes -1022.0 -2
chr1 235425000 235440000 Genes -1022.0 -2
chr1 235440000 235455000 Genes -1022.0 -2
chr1 235455000 235470000 Genes -1022.0 -2
chr1 235470000 235485000 Genes -1022.0 -2
chr1 235485000 235500000 Genes -1022.0 -2
chr1 235500000 235515000 Genes -1022.0 -2
chr1 235545000 235560000 Genes -2.205 -2
chr1 243210000 243225000 Genes -1022.0 -2
chr1 243225000 243240000 Genes -1022.0 -2
chr1 243240000 243255000 Genes -1022.0 -2
chr1 243255000 243270000 Genes -1022.0 -2
chr1 243270000 243285000 Genes -1022.0 -2
chr1 243285000 243300000 Genes -1022.0 -2
chr1 243300000 243315000 Genes -1022.0 -2
chr1 243315000 243330000 Genes -1022.0 -2
chr1 243330000 243345000 Genes -1022.0 -2
chr1 243345000 243360000 Genes -1022.0 -2
chr1 243360000 243375000 Genes -1022.0 -2
chr1 243375000 243390000 Genes -1022.0 -2
chr1 243390000 243405000 Genes -1022.0 -2
chr1 243405000 243420000 Genes -1022.0 -2
chr1 243420000 243435000 Genes -1022.0 -2
chr1 243435000 243450000 Genes -1022.0 -2
chr1 243450000 243465000 Genes -1022.0 -2
chr1 243465000 243480000 Genes -1022.0 -2
chr1 243480000 243495000 Genes -1022.0 -2
chr1 243495000 243510000 Genes -1022.0 -2
chr1 243510000 243525000 Genes -1022.0 -2
chr1 243525000 243540000 Genes -1022.0 -2
chr1 243540000 243555000 Genes -1022.0 -2
chr1 243555000 243570000 Genes -1022.0 -2
chr1 243570000 243585000 Genes -1022.0 -2
chr1 243585000 243600000 Genes -1022.0 -2
chr1 243600000 243615000 Genes -1022.0 -2
chr1 243615000 243630000 Genes -1022.0 -2
chr1 243630000 243645000 Genes -1022.0 -2
chr1 243645000 243660000 Genes -1022.0 -2
chr1 243660000 243675000 Genes -1022.0 -2
chr1 243675000 243690000 Genes -1022.0 -2
chr1 243690000 243705000 Genes -1022.0 -2
chr1 243705000 243720000 Genes -1022.0 -2
chr1 243720000 243735000 Genes -1022.0 -2
chr1 243735000 243750000 Genes -1022.0 -2
chr1 243750000 243765000 Genes -1022.0 -2
chr1 243765000 243780000 Genes -1022.0 -2
chr1 243780000 243795000 Genes -1022.0 -2
chr1 243795000 243810000 Genes -1022.0 -2
chr1 243810000 243825000 Genes -1022.0 -2
chr1 243825000 243840000 Genes -1022.0 -2
chr1 243855000 243870000 Genes -4.707 -2
chr1 243870000 243885000 Genes -3.375 -2
chr1 245310000 245325000 Genes -1022.0 -2
chr1 245325000 245340000 Genes -1022.0 -2
chr1 245340000 245355000 Genes -1022.0 -2
chr1 245355000 245370000 Genes -1022.0 -2
chr1 245370000 245385000 Genes -1022.0 -2
chr1 245385000 245400000 Genes -1022.0 -2
chr1 245400000 245415000 Genes -1022.0 -2
chr1 245415000 245430000 Genes -1022.0 -2
chr1 245430000 245445000 Genes -1022.0 -2
chr1 245445000 245460000 Genes -1022.0 -2
chr1 245460000 245475000 Genes -1022.0 -2
chr1 245475000 245490000 Genes -1022.0 -2
chr1 245490000 245505000 Genes -1022.0 -2
chr1 245505000 245520000 Genes -1022.0 -2
chr1 245520000 245535000 Genes -1022.0 -2
chr1 245535000 245550000 Genes -1022.0 -2
chr1 245550000 245565000 Genes -1022.0 -2
chr1 245565000 245580000 Genes -1022.0 -2
chr1 245580000 245595000 Genes -1022.0 -2
chr1 245595000 245610000 Genes -1022.0 -2
chr1 245610000 245625000 Genes -1022.0 -2
chr1 245625000 245640000 Genes -1022.0 -2
chr1 245640000 245655000 Genes -3.391 -2
chr1 245655000 245670000 Genes -1.777 -2
chr1 245670000 245685000 Genes -5.676 -2
chr1 245685000 245700000 Genes -1022.0 -2
chr1 245700000 245715000 Genes -2.886 -2
chr1 248355000 248370000 Genes -1022.0 -2
chr1 248370000 248385000 Genes -1022.0 -2
chr1 248385000 248400000 Genes -1022.0 -2
chr1 248400000 248415000 Genes -3.116 -2
chr1 248415000 248430000 Genes -1022.0 -2
chr2 765000 780000 Genes -1022.0 -2
chr2 780000 795000 Genes -1022.0 -2
chr2 795000 810000 Genes -1022.0 -2
chr2 810000 825000 Genes -1022.0 -2
chr2 825000 840000 Genes -3.682 -2
chr2 1200000 1215000 Genes -1.469 -2
chr2 1215000 1230000 Genes -1022.0 -2
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chr2 1245000 1260000 Genes -4.138 -2
chr2 1260000 1275000 Genes -0.674 -2
chr2 1275000 1290000 Genes -0.228 -2
chr2 1290000 1305000 Genes 0.259 -2
chr2 1305000 1320000 Genes -0.651 -2
chr2 1320000 1335000 Genes -2.532 -2
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chr2 1350000 1365000 Genes -1.164 -2
chr2 1365000 1380000 Genes -4.128 -2
chr2 1395000 1410000 Genes -5.715 -2
chr2 1410000 1425000 Genes -1.676 -2
chr2 1425000 1440000 Genes -0.189 -2
chr2 1440000 1455000 Genes -2.334 -2
chr2 1455000 1470000 Genes -1022.0 -2
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chr2 3420000 3435000 Genes -1.086 -2
chr2 3435000 3450000 Genes -2.089 -2
chr2 3450000 3465000 Genes -1022.0 -2
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chr2 36225000 36240000 Genes -4.116 -2
chr2 36240000 36255000 Genes -1022.0 -2
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chr2 115905000 115920000 Genes -1.998 -2
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chr2 115950000 115965000 Genes -1022.0 -2
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chr2 238770000 238785000 Genes -2.847 -2
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Quality Control Data

Histogram of Read Lengths

N.B. The read length affects the results of QDNASeq analysis. In future versions we will provide preset parameters based on detected read length

QDNASeq Copy Number QC Plots
Median read counts per genomic bin shown as a function of GC content and mappability Read count relationship between sequence depth and noise

Software versions

Name Version
pysam 0.20.0
R 4.2.2
QDNAseq 1.34.0
samtools 1.16.1

Workflow parameters

Key Value
help False
version False
disable_ping False
threads 20
aws_image_prefix None
aws_queue None
out_dir QDNAseq15
process_label wfdefault
snp False
sv False
methyl False
mapula False
cnv True
str False
fast5_dir None
bam ../mmi/6622CY001205_dorado_mmi.bam
ref /media/eservant/HDD_12To_31/ref/hg38_exclusion/GRCh38.p13.GRC_exclusions_T2Tv2.fa
old_ref None
bed None
basecaller dorado
basecaller_chunk_size 25
basecaller_cfg dna_r10.4.1_e8.2_400bps_hac@v4.0.0
basecaller_args None
basecaller_basemod_threads 2
cuda_device cuda:all
ubam_map_threads 8
ubam_sort_threads 3
ubam_bam2fq_threads 1
basecaller_model_path None
remora_model_path None
qscore_filter 10
remora_cfg None
dorado_ext fast5
clair3_model_path None
phase_vcf False
use_longphase True
use_longphase_intermediate True
sample_name 6622CY001205
ctg_name EMPTY
include_all_ctgs False
ref_pct_full 0.1
var_pct_full 0.7
GVCF False
snp_min_af 0.08
indel_min_af 0.15
vcf_fn EMPTY
min_contig_size 0
min_mq 5
min_cov 2
tr_bed None
sv_types DEL,INS
min_sv_length 30
max_sv_length 100000
min_read_support auto
min_read_support_limit 2
cluster_merge_pos 150
sniffles_args None
bin_size 15
modbam2bed_args None
sex female
monochrome_logs False
validate_params True
show_hidden_params False
schema_ignore_params show_hidden_params,validate_params,monochrome_logs,aws_queue,aws_image_prefix,wf,process_label,min_sv_length,max_sv_length,min_read_support,min_read_support_limit
wf {'name': 'wf-human-variation', 'template_version': '195cab5', 'example_cmd': ['--snp', '--sv', '--bam demo_data/demo.bam', '--bed demo_data/demo.bed', '--ref demo_data/demo.fasta', '--basecaller_cfg dna_r10.4.1_e8.2_400bps_hac@v4.0.0', '--sample_name MY_SAMPLE'], 'agent': None, 'e2l_base_tag': 'shaa6d218582d6056ea970b73e61f138ebb0ce6c5b1', 'e2l_snp_tag': 'sha800ab96e243576f7f5fb17a7c4ead9e538a48931', 'e2l_sv_tag': 'sha4963fc850f9e8807777b5a902473ba3eb4657930', 'e2l_methyl_tag': 'sha44a13bcf48db332b2277bb9f95b56d64e393a1d5', 'basecaller_container': 'dorado:sha097d9c8abc39b8266e3ee58f531f5ef8944a02c3', 'cnv_tag': 'shaa2eb8d075b9a8da6d5b8be6c29c2b7b772000f2b', 'str_tag': 'sha8a8df7d40e0c9125ed43b347811afd14a077f94e'}